Variant report

Variant	rs431168
Chromosome Location	chr7:65511604-65511605
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65509658..65512504-chr7:65578570..65580249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 164 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:158)

rs_ID	r²[population]
rs1039664	0.92[ASN][1000 genomes]
rs1061361	0.92[ASN][1000 genomes]
rs1134256	0.92[ASN][1000 genomes]
rs11538349	0.92[ASN][1000 genomes]
rs1167613	0.94[ASN][1000 genomes]
rs1177514	0.92[ASN][1000 genomes]
rs12698508	0.92[ASN][1000 genomes]
rs12698509	0.92[ASN][1000 genomes]
rs12698511	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13226598	0.92[ASN][1000 genomes]
rs13228133	0.81[ASN][1000 genomes]
rs13233662	0.84[ASN][1000 genomes]
rs13236109	0.84[ASN][1000 genomes]
rs13246608	0.82[ASN][1000 genomes]
rs13247184	0.85[ASN][1000 genomes]
rs160543	0.88[ASN][1000 genomes]
rs160642	0.88[ASN][1000 genomes]
rs160643	0.88[ASN][1000 genomes]
rs160644	0.88[ASN][1000 genomes]
rs160646	0.88[ASN][1000 genomes]
rs160648	0.88[ASN][1000 genomes]
rs160649	0.86[ASN][1000 genomes]
rs160651	0.81[ASN][1000 genomes]
rs160652	0.83[ASN][1000 genomes]
rs160653	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs160655	0.92[ASN][1000 genomes]
rs160656	0.88[ASN][1000 genomes]
rs160657	0.88[ASN][1000 genomes]
rs1626926	0.92[ASN][1000 genomes]
rs1701745	0.94[ASN][1000 genomes]
rs1701750	0.94[ASN][1000 genomes]
rs1701758	0.94[ASN][1000 genomes]
rs1701759	0.94[ASN][1000 genomes]
rs1715235	0.94[ASN][1000 genomes]
rs1723265	0.91[ASN][1000 genomes]
rs1723266	0.94[ASN][1000 genomes]
rs1723267	0.94[ASN][1000 genomes]
rs1723269	0.94[ASN][1000 genomes]
rs1723270	0.94[ASN][1000 genomes]
rs1723272	0.94[ASN][1000 genomes]
rs188765	0.95[ASN][1000 genomes]
rs1964692	0.92[ASN][1000 genomes]
rs2177703	0.90[ASN][1000 genomes]
rs2456483	0.94[ASN][1000 genomes]
rs2462569	0.94[ASN][1000 genomes]
rs2658583	0.94[ASN][1000 genomes]
rs2949697	0.94[ASN][1000 genomes]
rs2961102	0.92[ASN][1000 genomes]
rs3105600	0.92[ASN][1000 genomes]
rs313798	0.94[ASN][1000 genomes]
rs313799	0.94[ASN][1000 genomes]
rs313800	0.92[ASN][1000 genomes]
rs313801	0.93[ASN][1000 genomes]
rs313802	0.93[ASN][1000 genomes]
rs313803	0.93[ASN][1000 genomes]
rs313806	0.84[EUR][1000 genomes]
rs313807	0.95[ASN][1000 genomes]
rs313808	0.95[ASN][1000 genomes]
rs313809	0.95[ASN][1000 genomes]
rs313813	0.97[ASN][1000 genomes]
rs313814	0.99[ASN][1000 genomes]
rs313831	0.88[ASN][1000 genomes]
rs313832	0.88[ASN][1000 genomes]
rs313833	0.88[ASN][1000 genomes]
rs34136756	0.90[ASN][1000 genomes]
rs34193460	0.90[ASN][1000 genomes]
rs34529418	0.92[ASN][1000 genomes]
rs34560516	0.92[ASN][1000 genomes]
rs34577383	0.90[ASN][1000 genomes]
rs34586068	0.87[ASN][1000 genomes]
rs34628538	0.87[ASN][1000 genomes]
rs34637256	0.85[ASN][1000 genomes]
rs34804747	0.92[ASN][1000 genomes]
rs34933526	0.90[ASN][1000 genomes]
rs34970380	0.92[ASN][1000 genomes]
rs34974928	0.85[ASN][1000 genomes]
rs34983797	0.89[ASN][1000 genomes]
rs35046236	0.92[ASN][1000 genomes]
rs35058610	0.88[ASN][1000 genomes]
rs35087093	0.92[ASN][1000 genomes]
rs35257008	0.84[ASN][1000 genomes]
rs35260440	0.91[ASN][1000 genomes]
rs35268390	0.92[ASN][1000 genomes]
rs35283677	0.85[ASN][1000 genomes]
rs35310401	0.90[ASN][1000 genomes]
rs35391607	0.85[ASN][1000 genomes]
rs35396113	0.94[ASN][1000 genomes]
rs35421653	0.85[ASN][1000 genomes]
rs35432774	0.90[ASN][1000 genomes]
rs35480979	0.85[ASN][1000 genomes]
rs35542501	0.92[ASN][1000 genomes]
rs35663341	0.84[ASN][1000 genomes]
rs35679560	0.89[ASN][1000 genomes]
rs35689884	0.85[ASN][1000 genomes]
rs35820085	0.91[ASN][1000 genomes]
rs36004293	0.92[ASN][1000 genomes]
rs36033484	0.90[ASN][1000 genomes]
rs36068983	0.92[ASN][1000 genomes]
rs36084489	0.92[ASN][1000 genomes]
rs392355	0.94[ASN][1000 genomes]
rs402418	0.99[ASN][1000 genomes]
rs403089	0.93[ASN][1000 genomes]
rs423187	0.95[ASN][1000 genomes]
rs427044	0.99[ASN][1000 genomes]
rs431318	1.00[ASN][1000 genomes]
rs437889	0.99[ASN][1000 genomes]
rs448377	0.94[ASN][1000 genomes]
rs451396	0.94[ASN][1000 genomes]
rs458291	0.91[ASN][1000 genomes]
rs462853	0.88[ASN][1000 genomes]
rs465359	0.88[ASN][1000 genomes]
rs466983	0.93[ASN][1000 genomes]
rs55700941	0.90[ASN][1000 genomes]
rs55876148	0.90[ASN][1000 genomes]
rs55886244	0.92[ASN][1000 genomes]
rs55895244	0.90[ASN][1000 genomes]
rs55909123	0.83[ASN][1000 genomes]
rs56016656	0.90[ASN][1000 genomes]
rs56133509	0.84[ASN][1000 genomes]
rs56171161	0.90[ASN][1000 genomes]
rs56291018	0.88[ASN][1000 genomes]
rs56955188	0.90[ASN][1000 genomes]
rs56985706	0.90[ASN][1000 genomes]
rs57057549	0.92[ASN][1000 genomes]
rs57126451	0.92[ASN][1000 genomes]
rs58062456	0.85[ASN][1000 genomes]
rs58207111	0.94[ASN][1000 genomes]
rs58330502	0.90[ASN][1000 genomes]
rs59794892	0.92[ASN][1000 genomes]
rs59820001	0.88[ASN][1000 genomes]
rs59966766	0.94[ASN][1000 genomes]
rs60683927	0.88[ASN][1000 genomes]
rs67728539	0.90[ASN][1000 genomes]
rs68189316	0.92[ASN][1000 genomes]
rs6949812	0.87[ASN][1000 genomes]
rs6970243	0.90[ASN][1000 genomes]
rs709607	0.92[ASN][1000 genomes]
rs71564939	0.85[ASN][1000 genomes]
rs73142137	0.81[ASN][1000 genomes]
rs73142162	0.90[ASN][1000 genomes]
rs73142166	0.90[ASN][1000 genomes]
rs73148097	0.92[ASN][1000 genomes]
rs73150014	0.92[ASN][1000 genomes]
rs73150016	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7794661	0.90[ASN][1000 genomes]
rs7795242	0.90[ASN][1000 genomes]
rs7806717	0.90[ASN][1000 genomes]
rs781141	0.92[ASN][1000 genomes]
rs781142	0.92[ASN][1000 genomes]
rs781149	0.94[ASN][1000 genomes]
rs781150	0.94[ASN][1000 genomes]
rs781153	0.94[ASN][1000 genomes]
rs781154	0.94[ASN][1000 genomes]
rs781155	0.92[ASN][1000 genomes]
rs781156	0.94[ASN][1000 genomes]
rs781157	0.94[ASN][1000 genomes]
rs906134	0.92[ASN][1000 genomes]
rs937108	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs431168	GUSB	cis	Whole Blood	GTEx
rs431168	ASL	cis	multi-tissue	Pritchard
rs431168	VKORC1L1	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65509400-65512800	Weak transcription	NHLF	lung
2	chr7:65509400-65515200	Weak transcription	HepG2	liver
3	chr7:65509600-65511800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:65509600-65511800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:65509600-65511800	Weak transcription	Osteobl	bone
6	chr7:65509600-65512200	Weak transcription	HSMM	muscle
7	chr7:65509800-65511800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:65509800-65511800	Weak transcription	NHEK	skin
9	chr7:65509800-65512000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:65509800-65512200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:65509800-65515800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:65509800-65517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:65510800-65513400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:65511000-65513400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:65511400-65513400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:65511600-65512200	Enhancers	NH-A	brain
17	chr7:65511600-65513200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:65511600-65513400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:65511600-65513400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:65511600-65513400	Enhancers	NHDF-Ad	bronchial
21	chr7:65511600-65513600	Enhancers	HMEC	breast

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